rs797045789

plus

Geno	Mag	Summary
(C;C)	1	100% of 23andMe users are this genotype, which is not a known one
(CTAATAA;CTAATAA)	0	common in clinvar

Make rs797045789(ATT;ATT)

Make rs797045789(ATT;CTAATAA)

Reference

GRCh38.p2 38.2/146

Chromosome

5

Position

37064819

Gene	C5orf42, NIPBL

is a	snp
is	mentioned by
dbSNP	rs797045789
dbSNP (classic)	rs797045789
ClinGen	rs797045789
ebi	rs797045789
HLI	rs797045789
Exac	rs797045789
Gnomad	rs797045789
Varsome	rs797045789
LitVar	rs797045789
Map	rs797045789
PheGenI	rs797045789
Biobank	rs797045789
1000 genomes	rs797045789
hgdp	rs797045789
ensembl	rs797045789
geneview	rs797045789
scholar	rs797045789
google	rs797045789
pharmgkb	rs797045789
gwascentral	rs797045789
openSNP	rs797045789
23andMe	rs797045789
SNPshot	rs797045789
SNPdbe	rs797045789
MSV3d	rs797045789
GWAS Ctlg	rs797045789

Max Magnitude

1

23andMe tends to report the genotype for this SNP as (C;C), but since that doesn't correspond to any known allele reported in dbSNP for rs797045789, it's unclear what type of error this is.

ClinVar
Risk	rs797045789(ATT;ATT)
Alt	rs797045789(ATT;ATT)
Reference	Rs797045789(CTAATAA;CTAATAA)
Significance	Pathogenic
Disease	Cornelia de Lange syndrome 1
Variation	info
Gene	NIPBL
CLNDBN	Cornelia de Lange syndrome 1
Reversed	0
HGVS	NC_000005.9:g.37064921_37064927delCTAATAAinsATT
CLNSRC
CLNACC	RCV000194810.1,